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Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Emanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, Elisa Bettella, Lucia Verrillo, Roberta Polli, Meriel McEntagart, Laura Licchetta, Robertino Dilena, Stefano D’Arrigo, Claudia Ciaccio, Silvia Esposito, Vincenzo Leuzzi, Annalaura Torella, Demetrio Baldo, Fortunato Lonardo, Giulia Bonato, Serena De Pellegrin, Franco Stanzial, Renata Posmyk, Ewa Kaczorowska, Miryam Carecchio, Monika Goś, Sylwia Rzońca, Maria Giuseppina Miano, Alessandra Murgia

2022European Journal of Human Genetics20 citationsDOIOpen Access PDF

Topics & Concepts

GeneticsBiologyGenetics and Neurodevelopmental DisordersEpigenetics and DNA MethylationGenomic variations and chromosomal abnormalities
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants | Litcius